検索結果 - Sandesh C.S. Nagamani

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  1. 1
    Argininosuccinate lyase deficiency

    Argininosuccinate lyase deficiency 著者: Sandesh C.S. Nagamani, Ayelet Erez, Brendan Lee

    出版事項 2012
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  2. 2
    Argininosuccinate lyase deficiency—Argininosuccinic aciduria and beyond

    Argininosuccinate lyase deficiency—Argininosuccinic aciduria and beyond 著者: Ayelet Erez, Sandesh C. Sreenath Nagamani, Brendan Lee

    出版事項 2011
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  3. 3
    Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported?

    Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported? 著者: Shailly Jain‐Ghai, Sandesh C.S. Nagamani, Susan Blasér, Komudi Siriwardena, Annette Feigenbaum

    出版事項 2011
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  4. 4
    Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders

    Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders 著者: Lindsay C. Burrage, Sandesh C.S. Nagamani, Philippe M. Campeau, Brendan H. Lee

    出版事項 2014
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  5. 5
    Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders

    Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders 著者: Lindsay C. Burrage, Mahim Jain, Laura Gandolfo, Brendan H. Lee, Sandesh C.S. Nagamani

    出版事項 2014
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  6. 6
    Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta

    Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta 著者: Winnie Liu, Brendan Lee, Sandesh C.S. Nagamani, Lindsey Nicol, Frank Rauch, Eric T. Rush, V. Reid Sutton, Eric Orwoll

    出版事項 2023
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  7. 7
    Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

    Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects 著者: Julien Baruteau, Carmen Dı́ez-Fernández, Shaul Lerner, Giusy Ranucci, Paul Gissen, Carlo Dionisi‐Vici, Sandesh C.S. Nagamani, Ayelet Erez, Johannes Häberle

    出版事項 2019
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  8. 8
    Early prediction of phenotypic severity in Citrullinemia Type 1

    Early prediction of phenotypic severity in Citrullinemia Type 1 著者: Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C.S. Nagamani, Andrea Gropman, Georg F. Hoffmann, Sven F. Garbade, Roland Posset

    出版事項 2019
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  9. 9
    Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

    Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders 著者: Sandesh C.S. Nagamani, Ayelet Erez, Bruria Ben‐Zeev, Moshe Frydman, Susan Winter, Robert S. Zeller, Dima El‐Khechen, Luis Escobar, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung

    出版事項 2012
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    Artigo
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  10. 10
    Evaluation of teriparatide treatment in adults with osteogenesis imperfecta

    Evaluation of teriparatide treatment in adults with osteogenesis imperfecta 著者: Eric Orwoll, Jay R. Shapiro, Sandra Veith, Ying Wang, Jodi Lapidus, Chaim Vanek, Jan L. Reeder, Tony M. Keaveny, David C. Lee, Mary A. Mullins, Sandesh C.S. Nagamani, Brendan Lee

    出版事項 2014
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  11. 11
    Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation

    Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation 著者: Zixue Jin, Jordan Kho, Brian Dawson, Ming‐Ming Jiang, Yuqing Chen, Saima Ali, Lindsay C. Burrage, Monica Grover, Donna Palmer, Dustin L. Turner, Philip Ng, Sandesh C.S. Nagamani, Brendan Lee

    出版事項 2020
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    Artigo
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  12. 12
    Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency

    Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency 著者: Lindsay C. Burrage, Qin Sun, Sarah H. Elsea, Ming‐Ming Jiang, Sandesh C.S. Nagamani, Arthur E. Frankel, Everett Stone, Susan E. Alters, Dale E. Johnson, Scott W. Rowlinson, George Georgiou, Brendan Lee

    出版事項 2015
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    Artigo
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  13. 13
    Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

    Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 著者: Sandesh C. Sreenath Nagamani, Ayelet Erez, Joseph Shen, Chumei Li, Elizabeth Roeder, Sarah K. Cox, Lefkothea Karaviti, Margret Pearson, Sung‐Hae Kang, Trilochan Sahoo, Seema R. Lalani, Paweł Stankiewicz, V. Reid Sutton, Sau Wai Cheung

    出版事項 2009
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  14. 14
    Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes

    Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes 著者: Susan A. Berry, Uta Lichter‐Konecki, George A. Díaz, Shawn E. McCandless, William J. Rhead, Wendy E. Smith, Cynthia LeMons, Sandesh C.S. Nagamani, Dion F. Coakley, Masoud Mokhtarani, Bruce F. Scharschmidt, Brendan Lee

    出版事項 2014
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  15. 15
    Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

    Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3 著者: Shen Gu, Bo Yuan, Ian M. Campbell, Christine R. Beck, Claudia M.B. Carvalho, Sandesh C.S. Nagamani, Ayelet Erez, Ankita Patel, Carlos A. Bacino, Chad A. Shaw, Paweł Stankiewicz, Sau Wai Cheung, Weimin Bi, James R. Lupski

    出版事項 2015
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    Artigo
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  16. 16
    Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis

    Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis 著者: Shiran Rabinovich, Lital N. Adler, Keren Yizhak, Alona Sarver, Alon Silberman, Shani Agron, Noa Stettner, Qin Sun, Alexander Brandis, Daniel Helbling, Stanley H. Korman, Shalev Itzkovitz, David Dimmock, Igor Ulitsky, Sandesh C.S. Nagamani, Eytan Ruppin, Ayelet Erez

    出版事項 2015
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    Artigo
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  17. 17
    Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders

    Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders 著者: Lindsay C. Burrage, Lillian R Thistlethwaite, Bridget M. Stroup, Qin Sun, Marcus J. Miller, Sandesh C.S. Nagamani, William Craigen, Fernando Scaglia, V. Reid Sutton, Brett H. Graham, Adam D. Kennedy, Aleksandar Milosavljević, Brendan Lee, Sarah H. Elsea

    出版事項 2019
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  18. 18
    Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an <i>IFITM</i> <i>5</i> Mutation

    Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an <i>IFITM</i> <i>5</i> Mutation 著者: Jay R. Shapiro, Caressa Lietman, Monica Grover, James T. Lu, Sandesh C.S. Nagamani, Brian C. Dawson, Dustin Baldridge, Matthew N. Bainbridge, D.H. Cohn, Maria Blazo, Timothy T. Roberts, Feng-Shu Brennen, Yimei Wu, Richard A. Gibbs, Pamela Melvin, Philippe M. Campeau, Brendan Lee

    出版事項 2013
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    Artigo
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  19. 19
    Next-generation sequencing for disorders of low and high bone mineral density

    Next-generation sequencing for disorders of low and high bone mineral density 著者: Gautam Sule, Philippe M. Campeau, V. W. Zhang, Sandesh C.S. Nagamani, Brian C. Dawson, Monica Grover, Carlos A. Bacino, V. Reid Sutton, Nicola Brunetti‐Pierri, James T. Lu, Edmond G. Lemire, Richard A. Gibbs, Daniel H. Cohn, Hong Cui, L. Wong, Brendan H. Lee

    出版事項 2013
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    Artigo
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  20. 20
    A cross‐sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers

    A cross‐sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers 著者: Ruchita Patel, Sandesh C.S. Nagamani, David Cuthbertson, Philippe M. Campeau, J. Krischer, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Peter H. Byers, Melanie Pepin, Michaela Durigova, Francis H. Glorieux, Frank Rauch, B.H. Lee, Tracy Hart, V. Reid Sutton

    出版事項 2014
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    Artigo
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